Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal thrombosis (HP:0001977)

Parent Node:
Venous thrombosis (HP:0004936)

..Starting node
..Thrombophlebitis (HP:0004418)

Term ID:

4418

Name:

Thrombophlebitis

Synonym:

Definition:

Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).

Comments:

Reference:

HP:0004418

Genes and Diseases:

Child Nodes:

........

Superficial thrombophlebitis (HP:0002638)

........

Recurrent thrombophlebitis (HP:0004419)

Sister Nodes:

Cerebral venous thrombosis (HP:0005305)

Deep venous thrombosis (HP:0002625)

Splanchnic vein thrombosis (HP:0030247)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004418	HP:0004418	Thrombophlebitis	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	54
HP:0004418	HP:0004418	Thrombophlebitis	0	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included		60
HP:0004418	HP:0004418	Thrombophlebitis	0	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included		44
HP:0004418	HP:0004418	Thrombophlebitis	0	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included		58
HP:0004418	HP:0004418	Thrombophlebitis	0	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included		183
HP:0004418	HP:0004418	Thrombophlebitis	0	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0004418	HP:0004418	Thrombophlebitis	0	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant		65
HP:0004418	HP:0004418	Thrombophlebitis	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0004418	HP:0004418	Thrombophlebitis	0	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency	HP:0040282 - Frequent	75
HP:0004418	HP:0004418	Thrombophlebitis	0	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive		75
HP:0004418	HP:0004418	Thrombophlebitis	0	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal		75
HP:0004418	HP:0004418	Thrombophlebitis	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	948
HP:0004418	HP:0004418	Thrombophlebitis	0	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency		88
HP:0004418	HP:0004418	Thrombophlebitis	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0004418	HP:0004418	Thrombophlebitis	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0004418	HP:0004419	Recurrent thrombophlebitis	1	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	60
HP:0004418	HP:0004419	Recurrent thrombophlebitis	1	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	44
HP:0004418	HP:0004419	Recurrent thrombophlebitis	1	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	58
HP:0004418	HP:0004419	Recurrent thrombophlebitis	1	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	183
HP:0004418	HP:0002638	Superficial thrombophlebitis	1	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive	.	65
HP:0004418	HP:0002638	Superficial thrombophlebitis	1	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant	.	65
HP:0004418	HP:0002638	Superficial thrombophlebitis	1	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.	75
HP:0004418	HP:0002638	Superficial thrombophlebitis	1	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal	.	75
HP:0004418	HP:0004419	Recurrent thrombophlebitis	1	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency	.	88
HP:0004418	HP:0002638	Superficial thrombophlebitis	1	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040282 - Frequent	88
HP:0004418	HP:0004419	Recurrent thrombophlebitis	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162

Genes (11) :AKT1 F13A1 F2 HABP2 MTHFR PROC PRORP PROS1 PTEN SERPINC1 TGFB2

Diseases (11) :ORPHA:744 OMIM:188050 OMIM:612304 OMIM:176860 OMIM:619737 ORPHA:743 OMIM:614514 OMIM:612336 OMIM:613118 ORPHA:82 OMIM:614816

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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